Incidental Mutation 'IGL01071:4930544G11Rik'
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ID51255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930544G11Rik
Ensembl Gene ENSMUSG00000036463
Gene NameRIKEN cDNA 4930544G11 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01071
Quality Score
Status
Chromosome6
Chromosomal Location65952609-65954014 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 65953153 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 124 (D124A)
Ref Sequence ENSEMBL: ENSMUSP00000045487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043382]
Predicted Effect probably damaging
Transcript: ENSMUST00000043382
AA Change: D124A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045487
Gene: ENSMUSG00000036463
AA Change: D124A

DomainStartEndE-ValueType
RHO 8 181 5.39e-125 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef17 C A 7: 100,885,700 V1137L probably damaging Het
Birc6 A G 17: 74,566,132 D462G possibly damaging Het
Birc6 A T 17: 74,631,701 N2701Y probably damaging Het
Cadps C T 14: 12,509,091 probably null Het
Camk2a T C 18: 60,980,156 probably null Het
Capn10 T A 1: 92,945,075 W508R probably damaging Het
Cntn3 A T 6: 102,420,251 probably null Het
Crisp4 A G 1: 18,137,007 V19A probably benign Het
Depdc1b A T 13: 108,357,441 Y121F probably benign Het
Dsg1b T A 18: 20,409,215 S926R probably damaging Het
Eml6 A G 11: 29,850,816 probably null Het
Fam208a T A 14: 27,442,622 probably null Het
Gm26938 A C 5: 139,808,473 V117G possibly damaging Het
Keg1 T A 19: 12,719,000 Y183N probably damaging Het
Mpi A T 9: 57,550,592 I109N probably damaging Het
Olfr1217 A G 2: 89,023,175 V276A probably benign Het
Olfr305 T C 7: 86,363,560 K259R possibly damaging Het
Olfr53 C T 7: 140,652,914 H312Y possibly damaging Het
Olfr530 C T 7: 140,373,185 A142T probably benign Het
Pcdhb20 A G 18: 37,504,685 E88G possibly damaging Het
Pde6b G A 5: 108,419,715 W290* probably null Het
Phf20 T A 2: 156,294,088 probably null Het
Pkd1l1 A T 11: 8,848,921 H1830Q probably benign Het
Proc T C 18: 32,123,717 D299G probably damaging Het
Psmd14 A G 2: 61,800,063 T306A probably benign Het
Rab32 G A 10: 10,557,847 A81V probably damaging Het
Samd14 G A 11: 95,021,468 probably benign Het
Sh3rf1 T A 8: 61,225,959 C12S probably damaging Het
Sipa1l3 C T 7: 29,324,220 V663M possibly damaging Het
Slc2a5 A G 4: 150,120,733 probably benign Het
Tbkbp1 T C 11: 97,149,562 I9V probably damaging Het
Trip10 C A 17: 57,254,332 R196S possibly damaging Het
Vav1 T C 17: 57,299,176 Y267H probably benign Het
Wdr1 T C 5: 38,530,067 K207R probably benign Het
Other mutations in 4930544G11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00698:4930544G11Rik APN 6 65952895 missense probably damaging 1.00
IGL02528:4930544G11Rik APN 6 65953373 utr 3 prime probably benign
IGL02655:4930544G11Rik APN 6 65953090 missense probably damaging 1.00
IGL02692:4930544G11Rik APN 6 65952808 missense probably damaging 1.00
R2407:4930544G11Rik UTSW 6 65953228 missense probably benign 0.06
Posted On2013-06-21